GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases

por Koile, Daniel, Cordoba, Marta, de Sousa Serro, Maximiliano, Kauffman, Marcelo Andres, Yankilevich, Patricio
Publicado 2018

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach

por Córdoba, Marta, Rodriguez-Quiroga, Sergio Alejandro, Vega, Patricia Analía, Salinas, Valeria, Perez-Maturo, Josefina, Amartino, Hernán, Vásquez-Dusefante, Cecilia, Medina, Nancy, González-Morón, Dolores, Kauffman, Marcelo Andrés
Publicado 2018

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

por González-Morón, Dolores, Vishnopolska, Sebastián, Consalvo, Damián, Medina, Nancy, Marti, Marcelo, Córdoba, Marta, Vazquez-Dusefante, Cecilia, Claverie, Santiago, Rodríguez-Quiroga, Sergio Alejandro, Vega, Patricia, Silva, Walter, Kochen, Silvia, Kauffman, Marcelo Andrés
Publicado 2017